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Nervous System Diseases > Demyelinating Diseases > Hereditary Central Nervous System Demyelinating Diseases > Canavan Disease
... > Nutritional and Metabolic Diseases > Metabolic Diseases > Brain Diseases, Metabolic > Brain Diseases, Metabolic, Inborn > Hereditary Central Nervous System Demyelinating Diseases > Canavan Disease
... > Nervous System Diseases > Central Nervous System Diseases > Brain Diseases > Brain Diseases, Metabolic > Brain Diseases, Metabolic, Inborn > Hereditary Central Nervous System Demyelinating Diseases > Canavan Disease
... > Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Genetic Diseases, Inborn > Metabolism, Inborn Errors > Brain Diseases, Metabolic, Inborn > Hereditary Central Nervous System Demyelinating Diseases > Canavan Disease
... > Nutritional and Metabolic Diseases > Metabolic Diseases > Metabolism, Inborn Errors > Brain Diseases, Metabolic, Inborn > Hereditary Central Nervous System Demyelinating Diseases > Canavan Disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Genetic Diseases, Inborn > Heredodegenerative Disorders, Nervous System > Hereditary Central Nervous System Demyelinating Diseases > Canavan Disease
Nervous System Diseases > Neurodegenerative Diseases > Heredodegenerative Disorders, Nervous System > Hereditary Central Nervous System Demyelinating Diseases > Canavan Disease
... > Nervous System Diseases > Central Nervous System Diseases > Brain Diseases > Leukoencephalopathies > Hereditary Central Nervous System Demyelinating Diseases > Canavan Disease

Terme préférentiel

Canavan Disease  

Type

  • mesh:Descriptor

Définition

  • A rare neurodegenerative condition of infancy or childhood characterized by white matter vacuolization and demeylination that gives rise to a spongy appearance. Aspartoacylase deficiency leads to an accumulation of N-acetylaspartate in astrocytes. Inheritance may be autosomal recessive or the illness may occur sporadically. This illness occurs more frequently in individuals of Ashkenazic Jewish descent. The neonatal form features the onset of hypotonia and lethargy at birth, rapidly progressing to coma and death. The infantile form features developmental delay, DYSKINESIAS, hypotonia, spasticity, blindness, and megalencephaly. The juvenile form is characterized by ATAXIA; OPTIC ATROPHY; and DEMENTIA. (From Adams et al., Principles of Neurology, 6th ed, p944; Am J Med Genet 1988 Feb;29(2):463-71)

Concept générique

Synonyme(s)

  • Canavan-van Bogaert-Bertrand Disease
  • Leukodystrophy, Spongiform
  • Spongy Degeneration Of Central Nervous System
  • Spongy Degeneration of Infancy
  • Spongy Degeneration of the Brain
  • Spongy Degeneration of the Central Nervous System
  • Spongy Degeneration of White Matter In Infancy
  • Spongy Disease of Central Nervous System
  • Spongy Disease of White Matter
  • Van Bogaert-Bertrand Syndrome
  • Von Bogaert-Bertrand Disease

Qualificatif(s) autorisé(s)

Traductions

  • Maladie de Canavan

    français

  • Déficit en aspartoacylase
  • Dégénérescence spongieuse du système nerveux central
  • Maladie de Canavan-von Bogaërt

URI

http://data.loterre.fr/ark:/67375/JVR-WD8XP421-8

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RDF/XML TURTLE JSON-LD Date de création 16/02/1993, dernière modification le 24/05/2019